Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01509:Pde3b'

89147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

9830102A01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01509

Quality Score

Status

Chromosome

Chromosomal Location

114014388-114137173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114117645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 625 (Q625R)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032909]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032909
AA Change: Q625R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: Q625R

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
transmembrane domain	73	90	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
HDc	710	927	7.52e-4	SMART
low complexity region	991	1023	N/A	INTRINSIC
low complexity region	1048	1067	N/A	INTRINSIC
low complexity region	1081	1096	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149455

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutants show abnormalities in glycerol and fatty acid levels, along with changes in adipocyte morphology and decreased body fat percentage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,495,819 (GRCm39)	I85N	probably benign	Het
Bbof1	T	A	12: 84,457,859 (GRCm39)	N41K	possibly damaging	Het
Cdh10	A	G	15: 18,986,884 (GRCm39)	K372E	possibly damaging	Het
Clmn	T	A	12: 104,747,162 (GRCm39)	Q795L	probably benign	Het
Dnai4	G	A	4: 102,929,884 (GRCm39)	P369L	possibly damaging	Het
Enox1	T	C	14: 77,936,713 (GRCm39)	S583P	probably damaging	Het
Hmcn1	C	T	1: 150,485,382 (GRCm39)	G4407S	probably damaging	Het
Ifi206	T	A	1: 173,313,142 (GRCm39)	M109L	probably benign	Het
Ighmbp2	A	G	19: 3,318,711 (GRCm39)	M455T	possibly damaging	Het
Inpp4b	T	C	8: 82,617,332 (GRCm39)		probably benign	Het
Mctp2	A	G	7: 71,909,017 (GRCm39)	S99P	probably benign	Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Ogdhl	T	A	14: 32,059,716 (GRCm39)	M410K	probably damaging	Het
Pard3b	A	T	1: 62,200,407 (GRCm39)	R315S	possibly damaging	Het
Plxna3	A	G	X: 73,376,039 (GRCm39)	Q355R	probably benign	Het
Ptprm	A	T	17: 67,069,208 (GRCm39)	F907I	possibly damaging	Het
Slc16a4	A	C	3: 107,218,750 (GRCm39)		probably null	Het
Tasor	T	C	14: 27,181,731 (GRCm39)		probably benign	Het
Vmn1r82	A	T	7: 12,039,096 (GRCm39)	H123L	probably damaging	Het
Vmn2r1	T	C	3: 64,010,466 (GRCm39)	I568T	probably benign	Het
Zfp7	G	A	15: 76,765,333 (GRCm39)	V9M	probably damaging	Het
Zfp759	A	G	13: 67,287,658 (GRCm39)	N403S	probably benign	Het

Other mutations in Pde3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Pde3b	APN	7	114,126,136 (GRCm39)	nonsense	probably null
IGL02004:Pde3b	APN	7	114,118,852 (GRCm39)	missense	possibly damaging	0.67
IGL02113:Pde3b	APN	7	114,126,141 (GRCm39)	missense	probably damaging	1.00
IGL02201:Pde3b	APN	7	114,133,843 (GRCm39)	missense	probably damaging	1.00
IGL02266:Pde3b	APN	7	114,126,201 (GRCm39)	missense	probably damaging	1.00
IGL02601:Pde3b	APN	7	114,122,577 (GRCm39)	missense	probably damaging	1.00
IGL02641:Pde3b	APN	7	114,130,052 (GRCm39)	missense	probably damaging	1.00
IGL02671:Pde3b	APN	7	114,122,580 (GRCm39)	missense	possibly damaging	0.77
IGL02691:Pde3b	APN	7	114,107,320 (GRCm39)	splice site	probably benign
IGL02719:Pde3b	APN	7	114,105,483 (GRCm39)	missense	probably damaging	1.00
IGL03092:Pde3b	APN	7	114,122,583 (GRCm39)	missense	probably damaging	1.00
FR4342:Pde3b	UTSW	7	114,134,010 (GRCm39)	small insertion	probably benign
R0208:Pde3b	UTSW	7	114,097,216 (GRCm39)	missense	probably benign	0.00
R1191:Pde3b	UTSW	7	114,118,810 (GRCm39)	missense	probably benign	0.01
R1514:Pde3b	UTSW	7	114,130,001 (GRCm39)	missense	probably damaging	0.98
R1612:Pde3b	UTSW	7	114,118,791 (GRCm39)	nonsense	probably null
R2081:Pde3b	UTSW	7	114,122,657 (GRCm39)	missense	probably benign
R2433:Pde3b	UTSW	7	114,126,072 (GRCm39)	missense	probably benign	0.30
R2508:Pde3b	UTSW	7	114,126,092 (GRCm39)	nonsense	probably null
R3842:Pde3b	UTSW	7	114,126,102 (GRCm39)	missense	probably damaging	1.00
R4082:Pde3b	UTSW	7	114,093,823 (GRCm39)	missense	probably benign	0.04
R4115:Pde3b	UTSW	7	114,120,962 (GRCm39)	missense	probably damaging	1.00
R4197:Pde3b	UTSW	7	114,130,107 (GRCm39)	splice site	probably benign
R4236:Pde3b	UTSW	7	114,120,923 (GRCm39)	missense	possibly damaging	0.62
R4355:Pde3b	UTSW	7	114,015,522 (GRCm39)	missense	probably benign
R4411:Pde3b	UTSW	7	114,133,984 (GRCm39)	small deletion	probably benign
R4430:Pde3b	UTSW	7	114,133,905 (GRCm39)	missense	probably damaging	1.00
R4901:Pde3b	UTSW	7	114,107,425 (GRCm39)	missense	probably damaging	0.99
R4969:Pde3b	UTSW	7	114,118,847 (GRCm39)	missense	possibly damaging	0.92
R5314:Pde3b	UTSW	7	114,093,772 (GRCm39)	missense	probably damaging	1.00
R5346:Pde3b	UTSW	7	114,105,425 (GRCm39)	missense	probably benign	0.00
R5706:Pde3b	UTSW	7	114,120,927 (GRCm39)	missense	probably damaging	1.00
R5844:Pde3b	UTSW	7	114,108,106 (GRCm39)	missense	probably benign	0.01
R6014:Pde3b	UTSW	7	114,015,675 (GRCm39)	missense	probably damaging	1.00
R6048:Pde3b	UTSW	7	114,107,502 (GRCm39)	missense	probably benign	0.00
R6190:Pde3b	UTSW	7	114,122,267 (GRCm39)	splice site	probably null
R7220:Pde3b	UTSW	7	114,135,297 (GRCm39)	missense	probably damaging	0.97
R7239:Pde3b	UTSW	7	114,015,384 (GRCm39)	missense	probably damaging	0.99
R7818:Pde3b	UTSW	7	114,090,675 (GRCm39)	missense	probably damaging	0.99
R7869:Pde3b	UTSW	7	114,093,922 (GRCm39)	missense	probably benign	0.03
R8443:Pde3b	UTSW	7	114,126,129 (GRCm39)	missense	probably damaging	0.99
R8483:Pde3b	UTSW	7	114,118,803 (GRCm39)	missense	probably benign	0.15
R8516:Pde3b	UTSW	7	114,126,084 (GRCm39)	missense	probably benign	0.01
R8754:Pde3b	UTSW	7	114,015,278 (GRCm39)	missense	possibly damaging	0.90
R9017:Pde3b	UTSW	7	114,015,695 (GRCm39)	nonsense	probably null
R9221:Pde3b	UTSW	7	114,014,697 (GRCm39)	start gained	probably benign
R9302:Pde3b	UTSW	7	114,122,621 (GRCm39)	missense	probably damaging	1.00
R9799:Pde3b	UTSW	7	114,122,613 (GRCm39)	missense	probably damaging	1.00
RF051:Pde3b	UTSW	7	114,134,010 (GRCm39)	small insertion	probably benign

Posted On

2013-12-03